Conditions / Genetic
hereditary spastic paraplegia 30A
info · Genetic
A hereditary spastic paraplegia 30 that has_material_basis_in heterozygous mutation in the KIF1A gene on chromosome 2q37.
Signs and symptoms
- Peripheral axonal neuropathy
- Dysmetria
- Ataxia
- Lower limb muscle weakness
- Lower limb amyotrophy
- Babinski sign
- Cerebellar atrophy
- Spastic gait
- Lower limb spasticity
- Ankle clonus
Also known as: autosomal dominant spastic paraplegia 30; spastic paraplegia 30A